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GJA8 c.483T>G ;(p.F161L)
Variant ID: 1-147380565-T-G
NM_005267.4(
GJA8
):c.483T>G;(p.F161L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Calcium and activity-dependent signaling in the developing cerebral cortex.
Development (Cambridge, England)
Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G
Publication Date: 2022-09-01
Variant appearance in text: CAE: F161L
PubMed Link:
36102617
Variant Present in the following documents:
develop-149-198853-s1.pdf
View BVdb publication page
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08
Variant appearance in text: CAE: F161L
PubMed Link:
28488083
Variant Present in the following documents:
Main text
View BVdb publication page
Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Vitko, Iuliia I; Chen, Yucai Y; Arias, Juan M JM; Shen, Yen Y; Wu, Xi-Ru XR; Perez-Reyes, Edward E
Publication Date: 2005-05-11
Variant appearance in text: CAE: F161L
PubMed Link:
15888660
Variant Present in the following documents:
Main text
View BVdb publication page